Absent innervation of skin and sweat glands in congenital insensitivity topain with anhidrosis

Objectives: A case of a 10-year-old girl with congenital insensitivity to p ain with anhidrosis (CIPA) is reported. Methods and results: Parents referred several hyperpyretic episodes without sweating occurring since birth, and insensitivity to pain, noticed when th e child was 2 years old. Her body had many bruises and scars, bone fracture s and signs of self-mutilation. Neurological examination was normal except for insensitivity to pain. Her IQ was 52. Electrical and tactile sensory ne rve conduction velocities were normal. The patient was unable to detect the rmal stimuli. Histamine injection evoked a wheal but not a flare; pilocarpi ne by iontophoresis did not induce sweat. Microneurography showed neural ac tivity from A-beta sensory fibers while nociceptive and skin sympathetic C fiber nerve activity was absent. No small myelinated fibers and very rare u nmyelinated fibers were found in the sural nerve. Immunohistochemistry show ed a lack of nerve fibers in the epidermis and only few hypotrophic and uni nnervated sweat glands in the dermis. Conclusions: The lack of innervation of the skin (C and A-delta fibers) app ears to be the morphological basis of insensitivity to pain and anhidrosis, and is consistent with the loss of unmyelinated and small myelinated fiber s in the sural nerve biopsy. (C) 2000 Elsevier Science ireland Ltd. All rig hts reserved.